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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Buschke-Ollendorff syndrome
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Accession:DOID:0111536 term browser browse the term
Definition:A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in LEMD3 on chromosome 12q14.3. (DO)
Synonyms:exact_synonym: BOS;   Dermatofibrosis lenticularis disseminata with osteopoikilosis;   Dermatoosteopoikilosis;   dermatofibrosis lenticularis disseminata;   disseminated dermatofibrosis with osteopoikilosis;   osteopathia condensans disseminata
 related_synonym: DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED;   OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS;   OSTEOPOIKILOSIS, ISOLATED;   osteopoikilosis with melorheostosis
 primary_id: MESH:C537415
 alt_id: OMIM:166700
 xref: GARD:1044;   ORDO:1306
For additional species annotation, visit the Alliance of Genome Resources.


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Buschke-Ollendorff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Lemd3 LEM domain containing 3 no_association ISO ClinVar Annotator: match by OMIM:166700
DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human)
DNA:transversion mutation:intron: c.1921+1G>T(human)
DNA:nonsense mutation:cds:c.2203C>T(human)
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated
ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS
ClinVar Annotator: match by term: Osteopoikilosis with melorheostosis
OMIM
ClinVar
PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 PMID:17223882 PMID:19438932 PMID:25741868 PMID:28434888 PMID:28492532, PMID:19438932, PMID:20083694, PMID:21985280, PMID:20678097 RGD:11553840, RGD:11553842, RGD:11553843, RGD:11553844 NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Buschke-Ollendorff syndrome 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      musculoskeletal system disease 5283
        connective tissue disease 3626
          bone disease 2987
            bone development disease 1312
              osteochondrodysplasia 446
                osteosclerosis 42
                  Osteopoikilosis 2
                    Buschke-Ollendorff syndrome 2
paths to the root